ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2636G>A (p.Arg879Gln) (rs761597771)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233114 SCV000285581 uncertain significance Familial hemiplegic migraine 2018-09-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 879 of the ATP1A2 protein (p.Arg879Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs761597771, ExAC 0.01%). This variant has been reported in an individual with sporadic hemiplegic migraine, as well as in unaffected family members (PMID: 18513263). ClinVar contains an entry for this variant (Variation ID: 238168). Experimental studies have shown that this missense change does not alter cofactor binding affinity or disrupt protein function (PMID: 23954377). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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